Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/10286
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dc.contributor.authorDavey, Rachel Aen
dc.contributor.authorTebbutt, Niall Cen
dc.contributor.authorFavaloro, Jenny Men
dc.contributor.authorO'neal, David Nen
dc.contributor.authorRae, Dereken
dc.contributor.authorZajac, Jeffrey Den
dc.contributor.authorBest, James Den
dc.date.accessioned2015-05-15T23:41:38Z
dc.date.available2015-05-15T23:41:38Z
dc.date.issued2006-12-17en
dc.identifier.citationLipids in Health and Disease 2006; 5(): 29en
dc.identifier.govdoc17173705en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/10286en
dc.description.abstractSevere combined hyperlipidaemia has occasionally been associated with infiltration of tissues in addition to arteries and the skin. We report a woman with Type 2 diabetes mellitus (DM) and severe combined hyperlipidaemia who developed retinal lipid infiltration, resulting in blindness. A 61-year-old woman with a 15-year history of Type 2 DM was admitted following a two-week history of progressive visual loss. Examination identified lipid infiltration into the retina. Phenotypically she had severe combined hyperlipidaemia with elevated IDL cholesterol and a broad beta band on lipoprotein electrophoresis, raising the possibility of familial dysbetalipoproteinaemia. However, gene sequencing analysis indicated that the patient was homozygous for the E3/E3 allele of the ApoE gene with no mutations detected in either the coding region or intron-exon boundaries. Her lipid profile improved following dietary therapy and gemfibrozil treatment, but this had little effect on either her fundal appearances or her visual acuity. Type 2 DM plays a vital role both in allowing expression of severe combined hyperlipoproteinaemia, in addition to serving as a risk factor for complications such as tissue infiltration.en
dc.language.isoenen
dc.subject.otherAgeden
dc.subject.otherDiabetes Mellitus, Type 2.blood.complications.metabolismen
dc.subject.otherFemaleen
dc.subject.otherHemorrhageen
dc.subject.otherHumansen
dc.subject.otherHyperlipidemias.blood.complications.metabolismen
dc.subject.otherLipid Metabolismen
dc.subject.otherLipids.blooden
dc.subject.otherRetina.metabolism.pathologyen
dc.titleSevere combined hyperlipidaemia and retinal lipid infiltration in a patient with Type 2 diabetes mellitus.en
dc.typeJournal Articleen
dc.identifier.journaltitleLipids in health and diseaseen
dc.identifier.affiliationDepartment of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.doi10.1186/1476-511X-5-29en
dc.description.pages29en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/17173705en
dc.type.austinJournal Articleen
local.name.researcherTebbutt, Niall C
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextopen-
item.fulltextWith Fulltext-
item.cerifentitytypePublications-
item.languageiso639-1en-
crisitem.author.deptMedical Oncology-
crisitem.author.deptOlivia Newton-John Cancer Wellness and Research Centre-
crisitem.author.deptEndocrinology-
crisitem.author.deptMedicine (University of Melbourne)-
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